Novel mutations (H337R and 238-362del) in the CPS1...[Hum Hered. 2001] - PubMed Result

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1: Hum Hered. 2001;52(2):99-101. Links

Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.

Aoshima T, Kajita M, Sekido Y, Kikuchi S, Yasuda I, Saheki T, Watanabe K, Shimokata K, Niwa T.

Department of Pediatrics, Nagoya University School of Medicine,Nagoya, Japan.

PMID: 11474210 [PubMed - indexed for MEDLINE]

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